Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

Vol. 45 (5): 1064-1070, September – October, 2019

doi: 10.1590/S1677-5538.IBJU.2018.0808


CHALLENGING CLINICAL CASES

Mary García Acero 1, Olga Moreno 1, Andrés Gutiérrez 2, Catalina Sánchez 2, Juan Guillermo Cataño 2, Fernando Suárez-Obando 1, 3, Adriana Rojas 1
1 Human Genetic Institute, Pontifi cia Universidad Javeriana, Bogotá, Colombia; 2 Department of Urology, Hospital Universitario San Ignacio, Bogotá, Colombia; 3 Genetic Service, Hospital Universitario San Ignacio, Bogotá, Colombia

ABSTRACT

The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia.
The few cases reported in adults are incidental fi ndings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the fi nding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.

Keywords: Mullerian Ducts; Anti-Mullerian Hormone; Persistent Mullerian duct syndrome [Supplementary Concept]; Disorders of Sex Development

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